Y850C (p.Tyr850Cys) variant of ABCA4 (P78363)
Y850C (p.Tyr850Cys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Y850C (p.Tyr850Cys) variant details
- p.Tyr850Cys
- rs143797418
- ClinGen CA26843273
- ClinVar RCV001894361
- ClinVar RCV004797959
- Likely pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.89
- AlphaMissense 0.22
- MetaLR 0.64
- MetaSVM 0.49
- CADD 25.60
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available